Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11

The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is thelargest known human gene and characterized by the huge size of its introns. Intron 2has been shown to include cryptic exons termed exons 2a and 2b, while intron 3 hasbeen shown to include a cryptic exon designated exon 3a. In the present study, weidentified 2 and 1 additional cryptic exons in introns 2 and 3, respectively. A previouslyunknown 157-bp insertion was identified between exons 2 and 3 of a dystrophin mRNAisolated from the lymphocytes of a dystrophinopathy patient with duplication of exons8-11. Since this sequence exhibited the typical characteristics of a genomic exon, wedesignated it 'exon 2c-l'. A more detailed examination revealed that a position 4 bpdownstream from the 5' end of exon 2c-l was also used as a splice acceptor site, and thisexon was designated 'exon 2c-s'. In the same patient, a 357-bp insertion was identifiedbetween exons 3 and 4. Since this sequence also showed the typical characteristics of anexon, and its 3' end was the same as the splice donor site of exon 3a, we designated thenovel cryptic exon 'exon 3a-l', and changed the name of the previously reported exon3a to 'exon 3a-s'. Among these novel cryptic exons, exon 3a-l was also incorporatedinto the dystrophin mRNA from normal lymphocytes, whereas exons 2c-l and 2c-s werenot. The physiological or pathophysiological roles of these novel cryptic exons remainto be clarified

The Effects of Exercise Training on Obesity-Induced Dysregulated Expression of Adipokines in White Adipose Tissue

Obesity is recognized as a risk factor for lifestyle-related diseases such as type 2 diabetes and cardiovascular disease. White adipose tissue (WAT) is not only a static storage site for energy; it is also a dynamic tissue that is actively involved in metabolic reactions and produces humoral factors, such as leptin and adiponectin, which are collectively referred to as adipokines. Additionally, because there is much evidence that obesity-induced inflammatory changes in WAT, which is caused by dysregulated expression of inflammation-related adipokines involving tumor necrosis factor-α and monocyte chemoattractant protein 1, contribute to the development of insulin resistance, WAT has attracted special attention as an organ that causes diabetes and other lifestyle-related diseases. Exercise training (TR) not only leads to a decrease in WAT mass but also attenuates obesity-induced dysregulated expression of the inflammation-related adipokines in WAT. Therefore, TR is widely used as a tool for preventing and improving lifestyle-related diseases. This review outlines the impact of TR on the expression and secretory response of adipokines in WAT

High-resolution, Quantitative Tsunami simulation on New Earth Simulator

2015年より本格稼働した新地球シミュレータ（SX-ACE）で南海トラフ地震を想定した大規模津波シミュレーションを実施し，多数のシナリオに基づく和歌山県沿岸域における津波浸水データベースを構築した．津波シミュレーションを効率的に実施するために，津波シミュレーションコード（JAGURS）の最適化やスケーラビリティの評価，マルチジョブコントロールを実施した．津波シミュレーションの効率化により，3万ケースを超える津波シミュレーションを3か月という短期間で完了させた．津波浸水データベースは和歌山県が運用している津波浸水予測システムに組み込まれ，気象庁以外で初めて和歌山県が独自に津波予報業務をはじめている．2016年ハイパフォーマンスコンピューティングと計算科学シンポジウム（2016年6月6日～7日, 東北大学片平キャンパス

Polarity-dependence of the defect formation in c-axis oriented ZnO by the irradiation of an 8 MeV proton beam

The polarity dependence of the radiation hardness of single-crystalline ZnO bulk crystals is studied by irradiating the Zn-polar and O-polar c-planes with an 8 MeV proton beam up to the fluence of 4.2 × 1016 p/cm2. To analyze the hardness, radiation-induced defects were evaluated using positron annihilation (PA) analysis, and the recovery by post-annealing was examined using continuous-wave photoluminescence (PL) and time-resolved photoluminescence (TRPL) measurements. It was suggested by the PA and PL analyses that the major defects in both polarities were VZnVO divacancies. While the PA data did not show the clear dependence on the polarity, the PL and TRPL results showed that the Zn-polar c-plane had a little higher radiation tolerance than that of the O-polar c-plane, which was consistent with the result that the increase in the electrical resistance by proton beam irradiation was smaller for the former one. Considering these results in total, the polarity dependence is considered to be not so large, but the Zn-polar c-plane has a little higher tolerance than that of the O-polar one

Myocardial Impairment Detected by Late Gadolinium Enhancement in Hypertrophic Cardiomyopathy: Comparison with 99mTc-MIBI/Tetrofosmin and 123I-BMIPP SPECT

Purpose: Myocardial fibrosis is considered to be an important factor in myocardial dysfunction and sudden cardiac death in hypertrophic cardiomyopathy (HCM). The purpose of this study was to compare myocardial fibrosis detected by late gadolinium enhancement (LGE) on cardiac MRI with myocardial perfusion and fatty acid metabolism assessed by single photon emission computed tomography in HCM.Materials and Methods: We retrospectively evaluated 20 consecutive HCM patients (female, 7; mean age, 53.4 years) who underwent LGE, technetium-99m methoxyisobutylisonitrile/tetrofosmin (99mTc-MIBI/tetrofosmin), and iodine-123 beta-methyl-iodophenylpentadecanoic acid (123I-BMIPP) imaging. We calculated the myocardium-to-lumen signal ratio (M/L) for LGE in 17 segments based on the American Heart Association statement. Scoring of 99mTc-MIBI/tetrofosmin (PI) and 123I-BMIPP (BM) was performed for each segment using a 5-point scale (0, normal; 4, highly decreased).Results: Nineteen of 20 patients (95%) and 153 of 340 segments (45%) showed LGE. M/Ls were 0.42ｱ・.16, 0.55ｱ・.17, and 0.65ｱ・.24 in PI0/BM0, PI0/BM1-4 and PI1-4/BM1-4, respectively. All M/Ls were significantly higher than that of a normal control (0.34ｱ・.14) (p<0.001).Conclusions: Myocardial fibrosis in HCM can occur despite normal perfusion and fatty acid metabolism, and is more strongly associated with disorders of fatty acid metabolism than with perfusion abnormalities. M/L may be a useful indicator of disease severity

Impact of the State of Emergency during the COVID-19 Pandemic in 2020 on Asthma Exacerbations among Children in Kobe City, Japan

The coronavirus disease (COVID-19) pandemic altered environmental factors. We studied the impact of these changes on asthma exacerbation (AE) by comparing the AE-related environmental factors between COVID-19 (2020) and pre-COVID-19 (2011–2019) eras. Between 2011 and 2020, 278,465 children (&lt;16 years old) visited our emergency department, and 7476 were diagnosed with AE. The number of patients showed spring and fall peaks in 2011–2019. Multivariate analyses showed significant positive relationships of the number of AE patients with the average temperature among all patients and 0–5-year-olds and with sulfur dioxide (SO2) levels in 2011–2019 among 0–5-year-olds. Although the spring peak in the number of patients was not observed in 2020 after declaration of a state of emergency, the fall peak was again observed after the state of emergency was lifted. No changes in average temperature were detected, but SO2 was significantly reduced following declaration of the state of emergency in 2020. Therefore, SO2 reduction might have contributed to the disappearance of the peak of AE. However, a fall peak was observed again in 2020, although SO2 levels continued to be low. These data suggest that person to person interaction seems to be associated with AE, presumably due to unknown viral infections

Clinical features predicting group A streptococcal pharyngitis in a Japanese paediatric primary emergency medical centre

Objectives: To identify clinical features that predict Group A streptococcal (GAS) pharyngitis in a Japanese paediatric primary emergency medical centre. Methods: The prevalence of GAS pharyngitis according to age and body temperature (BT) was calculated among 3098 paediatric patients with pharyngitis. The numbers of GAS-positive and -negative patients for each clinical parameter, and each point increase in the McIsaac score were compared and likelihood ratios (LRs) were calculated. Results: The prevalence of GAS pharyngitis was extremely low in patients aged < 1 (1.2%) and 1 year (3.9%). The GAS-positive rate was significantly higher in patients with a BT< 38.0°C compared with ≥ 38.0°C (30.0% vs. 19.8%). A BT ≥ 38.0°C was not a predictive finding for GAS pharyngitis (positive LR: 0.82). Rash was the most useful individual predictor, and a McIsaac score of 4 or 5 increased the probability; however, the positive LRs were 1.74 and 1.30, respectively. Conclusions The prevalence of GAS pharyngitis is extremely low in patients aged < 1 and 1 year, and a BT ≥ 38.0°C is not a predictive symptom. Although a rash and McIsaac score of 4 or 5 are associated with an increased probability, they cannot be used to confirm GAS infection